Of course Momma's intuition was correct and this boy passed the PH probe with flying colors! In fact, he seems to be super NORMAL and showed no indication of having any reflux so we can finally get him off of those meds and also rule out reflux as a reason to his breathing.
After finally putting that to rest, docs still had to dig deeper to figure out why he breaths the way he does. The pulminology team came by and decided to try him on room air without oxygen to see if he would change at all. Within a few minutes, he began desaturating into the 70's but was not even showing signs this was happening. He, like always, was not turning blue or gasping for air, but then would steadily increase his breathing again and be back to normal in a few seconds.
The team had a new concern. What if this was something that was not controlling the CO2 and O2 levels in his body, meaning his brain. Your autonomic nervous system (fight or flight responses) control and regulate how your body does many different things including regulation of breathing. Sometimes, very rarely, there are people that do not have this part of their brain working properly. They cannot regulate these things and in end can die without knowing it's happening. The genetic disorder is called Congenital Central Hypoventilation Syndrome. This is a very rare genetic disorder that has only 200 live cases currently in the world. This syndrome has no cure and is life threatening if not detected because people that have it need to be on a ventilator while sleeping. We are hopeful it is not this, but if it is we will learn to take care of him as best we can. The blood test takes about two weeks to get back so right now it's just a waiting game. But the doctors are convinced that we are really reaching for an answer right now and they are fairly confident that he will not have this diagnosis because he is a rapid breather not a slow breather.
At the same time we have been pushing all along to get an MRI of Cohen's brain since that is the only other place we have yet to look into and really want to rule it out. There was one research study found online that involved a child that had 22Q and rapid breathing. The breathing was caused by compression of the spinal cord and was associated somewhat with the brain stem. The child underwent neurosurgery and was a slower breather after that. Even though it is traumatizing each time Cohen has gone under anesthesia, it has been important each time to rule out things that could be causing him to breathe the way he does. We decided it was best to do this because otherwise we would always wonder if that was the area that was causing all of these issues. He was a trooper and again recovered rather easily from the anesthesia and the MRI was NEGATIVE!!
With having to wait 2 weeks for the results of the other labs, the team that has been working with us finally scheduled a Care Conference on Friday for us to all get together, discuss his progress, and plan for our trip home that would hopefully be sooner rather than later. As Ryan and I were only anticipating a few doctors, we walked into a room FULL of people that have at one point in time seen Cohen. A social worker, parent liaison, a member of the ENT team that did the first bronchoscopy on Cohen, our nurse, the head resident checking in on us this week, the Pulminology fellow, the floor manager, a charge nurse, sleep medicine doctor, and his pediatrician. We felt LOVED! Even though we have had our ups and downs here over the past 8 weeks on and off, this truly showed us that we were being well cared for and Cohen was on everyone's mind.
During the meeting we discussed where we have been, the variety and extensive work up on Cohen, and future plans for him. The pulminology team really wanted him to try the high flow (not necessarily even with oxygen) to see if the flow would make a difference in his breathing. The only way to try this would be to transfer down to the PICU (pediatric ICU) where they were allowed to have high flow nasal cannula. They would continue to work with the doctors down below and keep close tabs on him, but this would be helpful in trying to figure out the best plan for going home. We would be sad to leave our huge support system but wanted to make every last attempt during this hospitalization to figure out the best and safest plan to go home with at this point.
They transferred us down there by mid-afternoon and we traded in our purple wristbands for shiny new blue ones. Once again we were settling into a new room and answering every question possible about his medical history and previous hospitalizations. I felt like it was Groundhog's Day once again! They were checking his "work of breathing" and asking us what his "baseline" breathing looked like. It just seemed like we kept going through this cycle and yet still no answers.
Over the past day or so Cohen has been doing great in the PICU...still breathing about the same but they have been experimenting with different levels of flow and oxygen to try to see what is best for his breathing...hopefully they'll figure it out soon!